ORAI1

ORAI calcium release-activated calcium modulator 1
OMIM: 610277, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ORAI1 in Neuromuscular disorders


Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, tubular aggregate, 2 615883

Amber ORAI1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.156

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Stormorken syndrome

Green ORAI1 in Primary immunodeficiency


Version 1.136

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Immunodeficiency 9 612782
  • T-B+ SCID
  • immunodeficiency, ectodermal dysplasia and myopathy
  • Combined immunodeficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • Combined immunodeficiencies with associated or syndromic features

Amber ORAI1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.46

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 1 160565

Green ORAI1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.191

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 2 615883
Tags
  • missense

Red ORAI1 in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.99

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, tubular aggregate, 2, 615883

Green ORAI1 in Neuromuscular arthrogryposis


Version 0.21

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Myopathy, tubular aggregate, 2, 615883

Green ORAI1 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Immunodeficiency 9, 612782